3-phosphoserine phosphatase deficiency, infantile/juvenile form
Synonyms: PSPH deficiency, infantile/juvenile form
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | PSPH deficiency, infantile/juvenile form |
| fr | Déficit en 3-phosphosérine phosphatase, forme infantile/juvénile | Déficit en PSPH, forme infantile/juvénile |
| de | 3-Phosphoserin-Phosphatase-Mangel, infantile/juvenile Form | PSPH-Defizienz, infantile/juvenile Form |
| es | Deficiencia de 3-fosfoserina fosfatasa, forma infantil/juvenil | Deficiencia de PSPH, forma infantil/juvenil |
| it | Deficit di 3-fosfoserina-fosfotasi | |
| nl | Deficiëntie van 3-fosfoserinefosfatase, infantiele/juveniele vorm | PSPH-deficiëntie, infantiele/juveniele vorm |
| pt | Deficiência de 3-fosfoserina fosfatase, forma da infância/juvenil | |
| pl | Niedobór fosfatazy 3-fosfoseryny | = en |
| cs | Deficit 3-fosfoserinfosfatázy | = en |
| uk | Дефіцит 3-фосфосеринфосфатази, інфантильна/ювенільна форма | Дефіцит PSPH, інфантильна/ювенільна форма |
| zh | 3-磷酸丝氨酸磷酸化酶缺陷症，婴儿/青少年型 | PSPH缺乏症，婴儿/青少年型 |
| tr | 3-fosfoserin fosfataz eksikliği, infantil / jüvenil formu | PSPH eksikliği, infantil/jüvenil formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614023 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.6 | NTBT | attributed | validated |
| MONDO | 0013531 | E | validated | |
| UMLS | C1291463 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:583595Serine biosynthesis pathway deficiency, infantile/juvenile form
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSPH | Disease-causing germline mutation(s) in | Assessed | HGNC:9577 | ENSG00000146733 | 172480 | 7p11.2 | phosphoserine phosphatase | 14673469[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 9222972[PMID]_14673469[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9222972[PMID]_14673469[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2019-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0012279 | Hyposerinemia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0008897 | Postnatal growth retardation | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000337 | Broad forehead | |
| HP:0100633 | Esophagitis | |
| HP:0000293 | Full cheeks | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001276 | Hypertonia | |
| HP:0000047 | Hypospadias | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0100540 | Palpebral edema | |
| HP:0000154 | Wide mouth | |
Annotation source: 28653176[PMID]_19963421[PMID]_8739971[PMID]_16763900[PMID]_25080166[PMID]_9222972[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79350
- This record as JSON: /data/d/79350.json